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- [1] Acid Sphingomyelinase Deficiency: A Clinical and Immunological PerspectiveINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (23)论文数: 引用数: h-index:机构:Sousa, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Aveiro, Dept Med Sci, P-3810193 Aveiro, Portugal Univ Porto, Inst Invest & Inovacao Saude I3S, Addict Biol, Fac Med, P-4050091 Porto, PortugalGhilas, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Univ Aveiro, Dept Med Sci, P-3810193 Aveiro, Portugal Univ Porto, Inst Invest & Inovacao Saude I3S, Addict Biol, Fac Med, P-4050091 Porto, PortugalDardis, Andrea论文数: 0 引用数: 0 h-index: 0机构: Reg Coordinating Ctr Rare Dis & MetabERN Univ Hos, I-33100 Udine, Italy Univ Porto, Inst Invest & Inovacao Saude I3S, Addict Biol, Fac Med, P-4050091 Porto, PortugalScarpa, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Reg Coordinating Ctr Rare Dis & MetabERN Univ Hos, I-33100 Udine, Italy Univ Porto, Inst Invest & Inovacao Saude I3S, Addict Biol, Fac Med, P-4050091 Porto, PortugalMacedo, Maria Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Aveiro, Dept Med Sci, P-3810193 Aveiro, Portugal Univ Porto, Cell Activat & Gene Express Grp, Inst Biol Mol & Celular IBMC, Inst Invest & Inovacao Saude i3S, Rua Alfredo Allen 208, P-4200135 Porto, Portugal Univ Porto, Inst Invest & Inovacao Saude I3S, Addict Biol, Fac Med, P-4050091 Porto, Portugal
- [2] Acid Sphingomyelinase Deficiency Ameliorates Farber DiseaseINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (24)Beckmann, Nadine论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyBecker, Katrin Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyKadow, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanySchumacher, Fabian论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Potsdam, Inst Nutr Sci, Dept Toxicol, Arthur Scheunert Allee 114-116, D-14558 Nuthetal, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyKramer, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyKuehn, Claudine论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanySchulz-Schaeffer, Walter J.论文数: 0 引用数: 0 h-index: 0机构: Univ Saarland, Insitute Neuropathol, Kirrberger Str 100, D-66421 Homburg, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyEdwards, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Surg, 231 Albert Sabin Way,ML 0558, Cincinnati, OH 45229 USA Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany论文数: 引用数: h-index:机构:Gulbins, Erich论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Cincinnati, Dept Surg, 231 Albert Sabin Way,ML 0558, Cincinnati, OH 45229 USA Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, GermanyCarpinteiro, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany Univ Hosp Essen, Dept Hematol, Hufelandstr 55, D-45147 Essen, Germany Univ Duisburg Essen, Dept Mol Biol, Hufelandstr 55, D-45147 Essen, Germany
- [3] Niemann–Pick Disease versus acid sphingomyelinase deficiencyCell Death & Differentiation, 2001, 8 : 100 - 102J Lozano论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyA Morales论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyA Cremesti论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyZ Fuks论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyJ L Tilly论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyE Schuchman论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyE Gulbins论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation OncologyR Kolesnick论文数: 0 引用数: 0 h-index: 0机构: Laboratory of Signal Transduction,Department of Radiation Oncology
- [4] Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)MOLECULAR GENETICS AND METABOLISM, 2019, 126 (02) : 98 - 105Wasserstein, Melissa论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USADionisi-Vici, Carlo论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Metab, Rome, Italy Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USAGiugliani, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Dept Genet, HCPA, Med Genet Serv, Porto Alegre, RS, Brazil Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USAHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USALidove, Olivier论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Diaconesses Croix St Simon, Paris, France Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USALukacs, Zoltan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USAMengel, Eugen论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Univ Med Ctr, Mainz, Germany Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USAMistry, Pramod K.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USASchuchman, Edward H.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, New York, NY 10029 USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USAMcGovern, Margaret论文数: 0 引用数: 0 h-index: 0机构: SUNY Stony Brook, Sch Med, Stony Brook, NY 11794 USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10467 USA
- [5] Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential DiagnosisJOURNAL OF CLINICAL MEDICINE, 2024, 13 (05)Giacomarra, Miriam论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyColomba, Paolo论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyFrancofonte, Daniele论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyZora, Marcomaria论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyCaocci, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Osped Businco, Ematol, Via Jenner, I-09124 Cagliari, Italy Osped Businco, Ctr Trapianto Midollo Osseo, Via Jenner, I-09124 Cagliari, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyDiomede, Daniela论文数: 0 引用数: 0 h-index: 0机构: Osped Mons R Dimiccoli, UOC Ematol & Trapianto, Viale Ippocrate 15, I-70051 Barletta, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyGiuffrida, Gaetano论文数: 0 引用数: 0 h-index: 0机构: Policlin Vittorio Emanuele Presidio Osped Ferraro, Div Clinicizzata Ematol Sez Trapianto Midollo Oss, Via Citelli 6, I-95124 Catania, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyFiori, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Vittore Buzzi Childrens Hosp, Dept Pediat, Via Castevetro 32, I-20154 Milan, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyMontanari, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Biomed & Clin Sci, Via Giovanni Battista Grassi 74, I-20157 Milan, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy论文数: 引用数: h-index:机构:Scortechini, Anna Rita论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Marche, Clin Ematol, Via Conca 71, I-60126 Ancona, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyVitturi, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Med DIMED, Div Metab Dis, Via Giustiniani 2, I-35128 Padua, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyDuro, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, ItalyZizzo, Carmela论文数: 0 引用数: 0 h-index: 0机构: Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy Inst Biomed Res & Innovat IRIB, Natl Res Council CNR, Via Ugo Malfa 153, I-90146 Palermo, Italy
- [6] Niemann-Pick Disease versus acid sphingomyelinase deficiencyCELL DEATH AND DIFFERENTIATION, 2001, 8 (01): : 100 - 102Lozano, J论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USAMorales, A论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USACremesti, A论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USAFuks, Z论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USATilly, JL论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USASchuchman, E论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USAGulbins, E论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USAKolesnick, R论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Lab Signal Transduct, New York, NY 10021 USA
- [7] Modelling the direct costs of chemotherapy-induced neutropenia treatment in Portuguese hospitals clinical practiceJOURNAL OF CLINICAL ONCOLOGY, 2007, 25 (18)Saramago, P.论文数: 0 引用数: 0 h-index: 0机构: Exigo Consultores, Alhos Vedros, PortugalAndreozzi, V.论文数: 0 引用数: 0 h-index: 0机构: Exigo Consultores, Alhos Vedros, PortugalFerreira, J. M.论文数: 0 引用数: 0 h-index: 0机构: Exigo Consultores, Alhos Vedros, PortugalFelix, J.论文数: 0 引用数: 0 h-index: 0机构: Exigo Consultores, Alhos Vedros, Portugal
- [8] Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)Orphanet Journal of Rare Diseases, 18Tarekegn Geberhiwot论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchMelissa Wasserstein论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchSubadra Wanninayake论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchShaun Christopher Bolton论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchAndrea Dardis论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchAnna Lehman论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchOlivier Lidove论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchCharlotte Dawson论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchRoberto Giugliani论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchJackie Imrie论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchJustin Hopkin论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchJames Green论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchDaniel de Vicente Corbeira论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchShyam Madathil论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchEugen Mengel论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchFatih Ezgü论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchMagali Pettazzoni论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchBarbara Sjouke论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchCarla Hollak论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchMarie T. Vanier论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchMargaret McGovern论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System ResearchEdward Schuchman论文数: 0 引用数: 0 h-index: 0机构: University Hospital Birmingham NHS Foundation Trust,Institute of Metabolism and System Research
- [9] Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trialsMOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 134 - 135Wasserstein, Melissa P.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAGiugliani, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, DASA, Casa Raros, Porto Alegre, RS, Brazil Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAJones, Simon论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester, Lancs, England Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USALachmann, Robin论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, London, England Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAScarpa, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Udine, Reg Coordinator Ctr Rare Dis, Udine, Italy Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAKumar, Monica论文数: 0 引用数: 0 h-index: 0机构: Sanofi, Bridgewater, NJ USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAArmstrong, Nicole论文数: 0 引用数: 0 h-index: 0机构: Sanofi, Cambridge, MA USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USAAguiar, Mario论文数: 0 引用数: 0 h-index: 0机构: Sanofi, Cambridge, MA USA Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY USA
- [10] Acid sphingomyelinase deficiency (ASMD): Clinical phenotype, therapeutical options, and perspectivesREVUE DE MEDECINE INTERNE, 2024, 45 : A23 - A25Lidove, O.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Diaconesses Croix St Simon, Serv Med Interne, F-75020 Paris, France Ctr Reference Malad Lysosomales, Paris, France Grp Hosp Diaconesses Croix St Simon, Serv Med Interne, F-75020 Paris, FranceMauhin, W.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Diaconesses Croix St Simon, Serv Med Interne, F-75020 Paris, France Ctr Reference Malad Lysosomales, Paris, France Grp Hosp Diaconesses Croix St Simon, Serv Med Interne, F-75020 Paris, France